Mitochondriopathies (Q35685889)

9 August 2017

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title

Mitochondriopathies. (English)

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9 August 2017

J Finsterer

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9 August 2017

publication date

1 March 2004

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European Journal of Neurology

9 August 2017

published in

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9 August 2017

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9 August 2017

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9 August 2017

page(s)

163-186

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Cytopathies involving mitochondrial complex II.

9 August 2017

cites work

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https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Import of proteins into mitochondria: a novel pathomechanism for progressive neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Morphological correlates of mitochondrial dysfunction in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Cerebrospinal-fluid lactate in adult mitochondriopathy with and without encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Phenotype variability in 130 adult patients with respiratory chain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Respiratory chain complex-I defect mimicking myasthenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Composition and dynamics of human mitochondrial nucleoids

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

The C66W Mutation in the Deafness Dystonia Peptide 1 (DDP1) Affects the Formation of Functional DDP1⋅TIM13 Complexes in the Mitochondrial Intermembrane Space

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

The neurology of mitochondrial DNA disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Chronic corticosteroid administration causes mitochondrial dysfunction in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Neurogenesis and apoptotic cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial dysfunction and neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

MNGIE: from nuclear DNA to mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

The role of the TIM8-13 complex in the import of Tim23 into mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mutation screening in patients with isolated cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

The "new" mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial myopathies and encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Paternal inheritance of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Do oxidatively modified proteins cause ALS?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

Deletions of the mitochondrial genome

21 January 2018

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/BF01799606

Identifiers

DOI

10.1046/J.1351-5101.2003.00728.X

1 reference

9 August 2017

1 reference